A24T (p.Ala24Thr) variant of CACNA1D (Q01668)
A24T (p.Ala24Thr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 3-53497154-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- MetaLR 0.73
- MetaSVM 0.16
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available